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SIP Power Point

  1. 1. Stickler Syndrome: A Physician’s Overview
  2. 2. What do you hear? <ul><li>It could just be </li></ul><ul><li>a Zebra and </li></ul><ul><li>not a Horse! </li></ul>
  3. 3. Stickler Syndrome: The Basics <ul><li>Progressive, genetic connective tissue disorder </li></ul><ul><li>Autosomal dominant </li></ul><ul><li>High degree of penetrance </li></ul><ul><li>Wide range of severity/ expression </li></ul><ul><li>Affects both sexes/ all ethnicities </li></ul><ul><li>Believed to be the most common connective tissue disorder </li></ul>
  4. 4. Stickler Syndrome: History <ul><li>First defined by Dr. Gunnar B. Stickler, a pediatrician at Mayo Clinic, in 1965 </li></ul><ul><li>Based on evaluation of 12 year old boy with vision, joint problems; had blind mother; other family members had been seen by Dr. Charles Mayo dating back to 1887 </li></ul><ul><li>Multi-disciplinary team studied five generations of boy’s family </li></ul><ul><li>Originally published under name Hereditary Progressive Arthro-Ophthalmopathy </li></ul>
  5. 5. Stats and Specs <ul><li>Mutations found in three collagen genes to date </li></ul><ul><li>Prevalence between 1 in 7500 and 1 in 3300 </li></ul><ul><li>Frequently misdiagnosed or undiagnosed </li></ul><ul><ul><li>Average age of children diagnosed - 4.2 years </li></ul></ul><ul><ul><li>Average age of adults diagnosed - 32 years </li></ul></ul><ul><ul><li>One study found 53% error rate in original diagnosis of patients later determined to have Stickler syndrome </li></ul></ul><ul><ul><li>10% of children born with cleft palate and 12% of children diagnosed at birth with Pierre-Robin sequence were later found to have Stickler syndrome </li></ul></ul><ul><li>Problems with vision, hearing, bones/ joints and oro-facial features </li></ul>
  6. 6. Stickler Faces
  7. 7. Clinical Findings – Ocular <ul><li>Myopia (mild to severe) </li></ul><ul><ul><li>Present at birth </li></ul></ul><ul><ul><li>Minimal progression </li></ul></ul><ul><li>Retinal Detachment/Degeneration </li></ul><ul><ul><li>Spontaneous </li></ul></ul><ul><ul><li>Giant tears/ holes </li></ul></ul><ul><ul><li>Bilateral </li></ul></ul><ul><ul><li>Patient typically under age 30 </li></ul></ul><ul><li>Cataracts </li></ul><ul><ul><li>Pre-senile </li></ul></ul><ul><ul><li>Wedge or comma shaped </li></ul></ul><ul><ul><li>Vitreous anomalies/degeneration </li></ul></ul><ul><ul><li>Glaucoma </li></ul></ul><ul><ul><li>Astigmatism/ Strabismus </li></ul></ul>
  8. 8. Clinical Findings - Auditory <ul><li>Sensorineural hearing loss </li></ul><ul><li>Conductive hearing loss </li></ul><ul><li>Otitis media </li></ul><ul><li>Hypermobile tympanic membranes </li></ul><ul><li>Ears tend to be low set </li></ul>
  9. 9. Clinical Findings – Musculo-skeletal <ul><li>Early onset osteoarthritis </li></ul><ul><ul><li>Usually most severe in hips and knees </li></ul></ul><ul><li>Abnormality to ends of long bones </li></ul><ul><li>Spinal abnormalities </li></ul><ul><ul><li>Scoliosis </li></ul></ul><ul><ul><li>Kyphosis (Scheuermann-like) </li></ul></ul><ul><ul><li>Schmorl’s nodes </li></ul></ul><ul><ul><li>Platyspondylia </li></ul></ul><ul><ul><li>Endplate abnormalities </li></ul></ul><ul><ul><li>Spondylolisthesis </li></ul></ul><ul><li>Femoral head flattening/ failure </li></ul><ul><li>Double jointedness to point of dislocation </li></ul><ul><li>Genu valgum (knock-kneed) </li></ul><ul><li>Pronated feet </li></ul>
  10. 10. Musculo-skeletal (con’t) <ul><li>Coxa vara( hip joint deformity) </li></ul><ul><li>Hypotonia </li></ul><ul><li>Posterior slip of capital epiphysis (Leggs-Perthes like disease) </li></ul><ul><li>Flattening of epiphyses </li></ul><ul><li>Protrusio acetabuli </li></ul><ul><li>Slender extremities, long fingers, normal height </li></ul><ul><li>Intra-articular loose bodies </li></ul><ul><li>Joint pain/ stiffness </li></ul><ul><li>Arachnodactyly </li></ul><ul><li>and more </li></ul>
  11. 11. Jay’s Knock Knees
  12. 12. Jay – pre/post knee surgery
  13. 13. Graham – pre-hip surgery
  14. 14. Graham – post-hip surgery
  15. 15. Clinical Findings - Oro-facial <ul><li>Flat malar/ mid-face area </li></ul><ul><li>Small lower jaw/ micrognathia </li></ul><ul><li>Posterior-placed tongue </li></ul><ul><li>Obstructive airway complications </li></ul><ul><li>Cleft palate, submucous cleft or high arched palate </li></ul><ul><li>Bifid uvula </li></ul><ul><li>Flat nasal bridge </li></ul><ul><li>Small, “button” nose </li></ul>
  16. 16. Oro-facial (con’t) <ul><li>Epicanthic fold or anteverted nares </li></ul><ul><li>Dental </li></ul><ul><ul><li>Enamel hypoplasia </li></ul></ul><ul><ul><li>Orthodontia issues/ malocclusion </li></ul></ul><ul><li>Symptoms become less distinctive with age </li></ul>
  17. 17. Small Noses!
  18. 19. Clinical Findings - Other <ul><li>Mitral Valve Prolapse – in question, now finding prevalence may be no higher than general population </li></ul><ul><li>Pregnancy Issues </li></ul><ul><li>And more </li></ul>
  19. 20. Overview
  20. 21. Genetic Info <ul><li>Natural mutations, not environmental mutation </li></ul><ul><li>10% of cases are 1 st generation, spontaneous mutations </li></ul><ul><li>3 specific mutation locations found in collagen; other mutations not yet specified </li></ul><ul><li>Mutations are usually a premature stop codon in the region of the gene encoding the triple helical domain of the collagen molecule </li></ul><ul><li>Type 1- mutation in COL2A1- 75% of Stickler syndrome pts have this mutation; results in problems with vision, hearing, oro-facial and musculo-skeletal systems </li></ul>
  21. 22. Genetic Info (con’t) <ul><li>Type 2- mutation in COL11A1-same system involvement as Type 1, but Type 1 and Type 2 have visibly different vitreous architecture abnormalities-useful in determining diagnosis </li></ul><ul><li>Type 3- mutation in COL11A2- problems with auditory, oro-facial and musculo-skeletal, but not eyes (also called OSMED - oto-spondylo-megaepiphyseal dysplasia) </li></ul><ul><li>Type 4- unknown gene mutation - possibly COL5A2 or others </li></ul>
  22. 23. Getting More Personal <ul><li>Our Family Tree </li></ul>
  23. 24. Family Symptoms <ul><li>Affected Female- Age 76 </li></ul><ul><ul><li>No visual problems </li></ul></ul><ul><ul><li>No skeletal problems </li></ul></ul><ul><ul><li>Clinical findings </li></ul></ul><ul><ul><ul><li>High, arched palate </li></ul></ul></ul><ul><ul><li>Treatments/surgeries – none </li></ul></ul>
  24. 25. Family Symptoms (con’t) <ul><li>Affected Female – Age 50 </li></ul><ul><ul><li>Vision </li></ul></ul><ul><ul><ul><li>Moderate myopia </li></ul></ul></ul><ul><ul><ul><li>Retinal detachment – age 16 </li></ul></ul></ul><ul><ul><li>Musculo-skeletal </li></ul></ul><ul><ul><ul><li>Joint pain/stiffness </li></ul></ul></ul><ul><ul><ul><li>Osteoarthritis – from teen years to current </li></ul></ul></ul><ul><ul><li>Oro-facial </li></ul></ul><ul><ul><ul><li>High, arched palate </li></ul></ul></ul><ul><ul><ul><li>Enamel hypoplasia </li></ul></ul></ul><ul><ul><li>Treatments/surgeries </li></ul></ul><ul><ul><ul><li>Scleral buckle and prophylactic laser on retinas </li></ul></ul></ul><ul><ul><ul><li>Cataract surgeries </li></ul></ul></ul><ul><ul><ul><li>Bilateral hip replacements </li></ul></ul></ul><ul><ul><ul><li>Med management </li></ul></ul></ul>
  25. 26. Family Symptoms (con’t) <ul><li>Affected Male – Age 21 </li></ul><ul><ul><li>Vision </li></ul></ul><ul><ul><ul><li>High myopia </li></ul></ul></ul><ul><ul><ul><li>Retinal detachment – age 14 and age18 </li></ul></ul></ul><ul><ul><li>Musculo-skeletal </li></ul></ul><ul><ul><ul><li>Genu valgum (Knock-kneed) </li></ul></ul></ul><ul><ul><li>Oro-facial </li></ul></ul><ul><ul><ul><li>High arched palate </li></ul></ul></ul><ul><ul><li>Auditory </li></ul></ul><ul><ul><ul><li>Severe otitis media </li></ul></ul></ul><ul><ul><li>Treatments/surgeries </li></ul></ul><ul><ul><ul><li>Scleral buckle and prophylactic laser on retinas </li></ul></ul></ul><ul><ul><ul><li>Scleral buckle on lasered retina </li></ul></ul></ul><ul><ul><ul><li>Knee growth plate stapling </li></ul></ul></ul><ul><ul><ul><li>Ear tubes </li></ul></ul></ul>
  26. 27. Family Symptoms (con’t) <ul><li>Affected Male – Age 15 </li></ul><ul><ul><li>Vision </li></ul></ul><ul><ul><ul><li>Mild myopia </li></ul></ul></ul><ul><ul><li>Musculo-skeletal </li></ul></ul><ul><ul><ul><li>Femoral head failure/ necrosis </li></ul></ul></ul><ul><ul><ul><li>Femoral head too large for hip socket </li></ul></ul></ul><ul><ul><ul><li>Pronated feet </li></ul></ul></ul><ul><ul><li>Oro-facial </li></ul></ul><ul><ul><ul><li>Mildly arched palate </li></ul></ul></ul><ul><ul><li>Treatments/surgeries </li></ul></ul><ul><ul><ul><li>Prophylactic laser on retinas </li></ul></ul></ul><ul><ul><ul><li>Femur wedge osteotomy </li></ul></ul></ul><ul><ul><ul><li>Triple innonimate hip osteotomies </li></ul></ul></ul><ul><ul><ul><li>Ankle growth plate screws </li></ul></ul></ul><ul><ul><ul><li>Ankle growth plate removal </li></ul></ul></ul>
  27. 28. Diagnostic Criteria <ul><li>Based on findings of long-term NIH study </li></ul><ul><li>Evaluates molecular data, family history, characteristic ocular, auditory and skeletal abnormalities </li></ul><ul><li>12 points possible on 9 criteria </li></ul><ul><li>Diagnosis (for Type 1 SS) requires 5 points minimum AND presence of cleft palate, ocular abnormalities or high frequency sensorineural hearing loss </li></ul>
  28. 29. Stickler Syndrome Diagnostic Criteria
  29. 30. Other Diagnostic Comments <ul><li>Most common cause of retinal detachment in children </li></ul><ul><li>Ocular issues most often addressed retroactively, then patient later diagnosed with Stickler syndrome as other problems develop </li></ul><ul><li>Often confused with </li></ul><ul><ul><li>Wagner’s syndrome </li></ul></ul><ul><ul><li>Marshall’s syndrome </li></ul></ul><ul><ul><li>Weissenbacher – Zweymueller’s syndrome </li></ul></ul><ul><li>Are there undiagnosed family members? </li></ul>
  30. 31. Management of Physical Issues <ul><li>Ocular </li></ul><ul><ul><li>Ophthalmologic assessment- as often as every 3-6 months in young children (children will often not complain about sight issues until the 2 nd eye is affected) </li></ul></ul><ul><ul><li>Normal newborns are hyperopic (+1 diopters or more), so any degree of myopia is suspect </li></ul></ul><ul><ul><li>Prophylactic laser photocoagulation or kryo treatment on retinas (UK is also doing prophylactic scleral buckling) </li></ul></ul><ul><ul><li>“ Evaluation under anesthesia” especially for infants and young children already diagnosed </li></ul></ul><ul><ul><li>Meds for glaucoma </li></ul></ul><ul><ul><li>Getting infants and children who have vision problems treatment (such as corrective lenses) is important for brain development </li></ul></ul>
  31. 32. Management Of Physical Issues <ul><li>Auditory </li></ul><ul><ul><li>Hearing assessment </li></ul></ul><ul><ul><li>Check for frequent ear infections/use antibiotic meds </li></ul></ul><ul><ul><li>Otolaryngology evaluation- to assess ear and/or palate abnormalities, including submucous cleft and bifid uvula </li></ul></ul><ul><ul><li>Evaluate need for hearing aids and speech therapy </li></ul></ul>
  32. 33. Management of Physical Issues <ul><li>Oro-facial abnormalities </li></ul><ul><ul><li>Maxillo-facial and feeding assessment, if mid-line clefting </li></ul></ul><ul><ul><li>Check for feeding problems </li></ul></ul><ul><ul><li>Speech/ swallow evaluations for all individuals with cleft abnormalities </li></ul></ul><ul><ul><li>Sleep study for children with breathing issues </li></ul></ul><ul><ul><li>Orthodontics </li></ul></ul>
  33. 34. Management of Physical Issues <ul><li>Musculo-skeletal </li></ul><ul><ul><li>Skeletal evaluation </li></ul></ul><ul><ul><li>Radiographic skeletal survey in childhood </li></ul></ul><ul><ul><li>Rheumatology consultation </li></ul></ul><ul><ul><li>Splints, braces, aids </li></ul></ul><ul><ul><li>Pain management – oral meds, incl. anti-inflammatories, joint lubricants/injections </li></ul></ul><ul><ul><li>Rehabilitation, physical, hydro-therapies </li></ul></ul><ul><ul><li>Arthroscopy/surgery </li></ul></ul><ul><ul><li>Appropriate exercise program to strengthen muscles around lax joints (no contact sports, diving, roller coasters) </li></ul></ul><ul><ul><li>Pain Clinic evaluation </li></ul></ul>
  34. 35. Management of Physical Issues <ul><li>Cardiac </li></ul><ul><ul><li>Echocardiogram (if reason to suspect mitral valve prolapse) </li></ul></ul><ul><ul><li>Prophylactic antibiotics (if MVP or joint replacements) </li></ul></ul><ul><li>Genetics </li></ul><ul><ul><li>Prenatal testing- if Stickler syndrome in family, consider CVS, amniocentesis or ultrasound; especially important to determine if cleft issues to be dealt with at time of birth </li></ul></ul>
  35. 36. Management of Psycho-Social Issues <ul><li>Normal intelligence, but can be challenged by vision/ hearing/joint issues at school, work, socially </li></ul><ul><li>Normal lifespan, but impacts major life decisions such as college, career, marriage, child-bearing </li></ul><ul><li>Children and young adults deal with denial issues; want to appear normal </li></ul><ul><ul><li>May ignore health issues </li></ul></ul><ul><ul><li>Problems may be minimized by parents or teachers </li></ul></ul>
  36. 37. Management of Psycho-Social Issues (con’t) <ul><li>School issues </li></ul><ul><ul><li>Manage absences due to doctor appts/surgeries and hospitalizations </li></ul></ul><ul><ul><li>Awareness of bullying and teasing </li></ul></ul><ul><ul><li>Potentially eliminate PE class or modify involvement </li></ul></ul><ul><li>Work with parent on acceptance and communication </li></ul><ul><li>Encourage parent to educate themselves on IEP (Individual Education Plan) and 504 plans </li></ul><ul><li>Counseling for patients and family members </li></ul><ul><li>Address sibling issues </li></ul>
  37. 38. Resources/Support - U.S. <ul><li>Stickler Involved People </li></ul><ul><ul><li>501(c)(3), not-for-profit, all volunteer organization </li></ul></ul><ul><ul><li>Mission - educate and give support to all those affected by Stickler syndrome </li></ul></ul><ul><ul><li>Contact Information </li></ul></ul><ul><ul><ul><li>www.sticklers.org </li></ul></ul></ul><ul><ul><ul><li>[email_address] </li></ul></ul></ul><ul><ul><li>Support Services </li></ul></ul><ul><ul><ul><li>Annual Conference </li></ul></ul></ul><ul><ul><ul><li>List serve </li></ul></ul></ul><ul><ul><ul><li>Quarterly newsletter </li></ul></ul></ul><ul><ul><ul><li>Educational and support services </li></ul></ul></ul><ul><ul><ul><li>DVD (copy can be ordered at www.sticklervideo.org ) </li></ul></ul></ul><ul><ul><ul><li>Brochures </li></ul></ul></ul>
  38. 39. More Resources <ul><li>Dave Hawley’s Stickler Syndrome Page </li></ul><ul><ul><ul><li>http://members.aol.com/dhawley/stickler.html </li></ul></ul></ul><ul><li>National Organization for Rare Diseases </li></ul><ul><ul><li>www.rarediseases.org </li></ul></ul><ul><ul><li>Free Physician’s Guides available (for 9 rare diseases so far) </li></ul></ul><ul><ul><li>On-line summaries for over 1100 rare diseases </li></ul></ul><ul><li>National Coalition for Health Professional Education in Genetics (NCHPEG) </li></ul><ul><ul><li>www.nchpeg.org </li></ul></ul><ul><li>National Institute of Child Health and Human Development </li></ul><ul><ul><li>www.nichd.nih.gov </li></ul></ul>
  39. 40. SIP goal: to educate physicians <ul><li>Increase awareness, especially of primary care physicians </li></ul><ul><li>Why? </li></ul><ul><ul><li>NIH and Stickler Group Survey Results </li></ul></ul><ul><ul><li>1997-NIH initiated a long-term study of Stickler syndrome patients </li></ul></ul><ul><ul><li>1998 and 2001 Stickler support groups in US, UK, the Netherlands and Canada surveyed their members </li></ul></ul><ul><li>Results (of 330 returned surveys) </li></ul><ul><ul><li>Age at Diagnosis </li></ul></ul><ul><ul><ul><li>Infants – 9% </li></ul></ul></ul><ul><ul><ul><li>Childhood/ Young Adults - 73% </li></ul></ul></ul><ul><ul><ul><li>Adults over age 30 – 18% </li></ul></ul></ul><ul><ul><li>Diagnosed By – </li></ul></ul><ul><ul><ul><li>Genetics- 42% </li></ul></ul></ul><ul><ul><ul><li>Ophthalmologists- 38% </li></ul></ul></ul><ul><ul><ul><li>Pediatricians- 8% </li></ul></ul></ul><ul><ul><ul><li>Other Specialties- 12% </li></ul></ul></ul>
  40. 41. Survey Results <ul><li>Diagnosed individuals –childhood symptoms </li></ul><ul><ul><ul><li>90%- myopia </li></ul></ul></ul><ul><ul><ul><li>41%- frequent ear infections </li></ul></ul></ul><ul><ul><ul><li>24%- knock-kneed </li></ul></ul></ul><ul><ul><ul><li>41%- joint pain by age 9 </li></ul></ul></ul><ul><li>So, although not all near-sighted, knock-kneed children with ear infections and/or joint pain will have Stickler syndrome… </li></ul><ul><li>A Tipping Point to remember is: </li></ul><ul><li>You would rarely see a child with Stickler syndrome who wasn’t near sighted, knock-kneed, having joint pain and/ or ear infections </li></ul>
  41. 42. What do you do? <ul><li>If you see some combination of myopia, characteristic facial features, hearing loss, skeletal abnormalities, and cleft issues in a 1 year old, you might suspect Stickler syndrome. Then, </li></ul><ul><ul><li>Refer to a geneticist </li></ul></ul><ul><ul><li>Give the family internet site information for them to review </li></ul></ul><ul><ul><ul><li>Likely to help with acceptance, if that is an issue </li></ul></ul></ul><ul><ul><ul><li>Allows them to come to the conclusion to seek geneticist’s opinion and/or treatment </li></ul></ul></ul><ul><ul><li>Multi-disciplinary, TEAM approach with specialists, therapists, educators </li></ul></ul>
  42. 43. Not So Different <ul><li>Sometimes that zebra and that horse look almost the same! </li></ul><ul><li>You may well see a Stickler syndrome zebra. Will you recognize it? </li></ul>
  43. 44. References <ul><li>Hughes, Wendy - Stickler Syndrome Support Group (UK). Stickler Syndrome - A Child in Your Care . 11/2000. </li></ul><ul><li>Hughes, Wendy - Stickler Syndrome Support Group (UK). Stickler Syndrome - A Diagnostic Aid for Professionals . 11/2004. </li></ul><ul><li>Francomano, Clair, Wilkin, Douglas J., Liberfarb, Ruth M. &quot;Stickler Syndrome.&quot; Management of Genetic Syndromes . : Wiley Liss, Inc. , 2005. </li></ul><ul><li>Rose, Peter S., Levy, Howard P., Liberfarb, Ruth M., Davis, Joie, Szymko-Bennett, Y., Rubin, Benjamin I., Tsilou, Ekaterini, Griffith, Andrew J., Francomano, Clair A., &quot;Stickler Syndrome: Clinical Characteristics and Diagnostic Criteria.&quot; American Journal of Medical Genetics . 138A (2005). 199-207. </li></ul><ul><li>Robin, MD, Nathaniel H., Warmen, MD, Matthew L.. &quot;Stickler Syndrome.&quot; geneclinics.org . June 8, 2000. Gene Clinics. 13 July 2001. http://www.geneclinics.org/profiles/stickler/details. </li></ul><ul><li>Rose, BS, MD, Peter S., Levy, MD, PhD, Howard P., et al., &quot;Thoracolumbar Spinal Abnormalities in Stickler Syndrome.&quot; Spine . 26 (2001). 403-409. </li></ul>

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